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NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr) AND Decreased circulating carnitine concentration

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 7, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002226458.9

Allele description [Variation Report for NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)]

NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)

Gene:
SLC22A5:solute carrier family 22 member 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.1
Genomic location:
Preferred name:
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)
HGVS:
  • NC_000005.10:g.132370310G>A
  • NG_008982.2:g.5607G>A
  • NM_001308122.2:c.338G>A
  • NM_003060.4:c.338G>AMANE SELECT
  • NP_001295051.1:p.Cys113Tyr
  • NP_003051.1:p.Cys113Tyr
  • NP_003051.1:p.Cys113Tyr
  • NC_000005.9:g.131706002G>A
  • NM_003060.3:c.338G>A
Protein change:
C113Y
Links:
dbSNP: rs727504159
NCBI 1000 Genomes Browser:
rs727504159
Molecular consequence:
  • NM_001308122.2:c.338G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003060.4:c.338G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Decreased circulating carnitine concentration
Synonyms:
Decreased plasma carnitine
Identifiers:
MedGen: C5848230; Human Phenotype Ontology: HP:0003234

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002078298Natera, Inc.
no assertion criteria provided
Pathogenic
(Jul 7, 2021) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV002078298.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024